Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, South China Agricultural University, Guangzhou 510642, China.
Guangdong Key Laboratory of Genome and Molecular Breeding of Agricultural Animals and Key Laboratory of Chicken Genetic Breeding and Reproduction, Ministry of Agriculture, Guangzhou 510642, China.
Int J Mol Sci. 2024 Jun 28;25(13):7155. doi: 10.3390/ijms25137155.
Molecular breeding accelerates animal breeding and improves efficiency by utilizing genetic mutations. Structural variations (SVs), a significant source of genetic mutations, have a greater impact on phenotypic variation than SNPs. Understanding SV functional mechanisms and obtaining precise information are crucial for molecular breeding. In this study, association analysis revealed significant correlations between 198-bp SVs in the promoter region and abdominal fat weight, intramuscular fat content, and subcutaneous fat thickness in chickens. High expression of in adipose tissue was positively correlated with the abdominal fat percentage, and different genotypes of exhibited varied expression patterns in the liver. The 198-bp SVs regulate expression by binding to different transcription factors. Overexpression of promoted preadipocyte proliferation and differentiation, while interference had the opposite effect. Mechanistically, the 198-bp fragment contains binding sites for transcription factors such as C/EBPα that regulate expression and fat synthesis. These SVs are significantly associated with chicken fat traits, positively influencing preadipocyte development by regulating cell proliferation and differentiation. Our work provides compelling evidence for the use of 198-bp SVs in the promoter region as molecular markers for poultry breeding and offers new insights into the pivotal role of the gene in fat generation.
分子育种通过利用基因突变来加速动物育种并提高效率。结构变异（SVs）是基因突变的重要来源，比 SNPs 对表型变异的影响更大。了解 SV 的功能机制并获取精确的信息对于分子育种至关重要。在这项研究中，关联分析显示，鸡 启动子区域的 198-bpSV 与腹脂重、肌内脂肪含量和皮下脂肪厚度之间存在显著相关性。在脂肪组织中高表达 与腹脂百分比呈正相关，并且 不同基因型在肝脏中的表达模式不同。198-bpSV 通过与不同的转录因子结合来调节 的表达。过表达 促进前体脂肪细胞的增殖和分化，而干扰则产生相反的效果。从机制上讲，198-bp 片段包含转录因子如 C/EBPα 的结合位点，这些转录因子调节 的表达和脂肪合成。这些 SVs 与鸡脂肪性状显著相关，通过调节细胞增殖和分化，正向影响前体脂肪细胞的发育。我们的工作为利用 198-bpSV 作为家禽育种的分子标记提供了有力证据，并为 基因在脂肪生成中的关键作用提供了新的见解。
